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Canine as a Comparative and Translational Model for Human Mammary Tumor

Kwon JY, Moskwa N, Kang W, Fan TM, Lee C

Despite the advances in research and treatment of human breast cancer, its incidence rate continues to increase by 0.5% per year, and the discovery of novel therapeutic strategies for specific...
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Diagnosis and Treatment of Monogenic Hypertension in Children

Park SJ, Shin JI

Although the majority of individuals with hypertension (HTN) have primary and polygenic HTN, monogenic HTN is a secondary type that is widely thought to play a key role in pediatric...
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Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Yamamoto Y, Liao YC, Lee YC, Ihara M, Choi JC

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic disorder of the cerebral small blood vessels. It is caused by mutations in the NOTCH3...
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Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation

Kim JW, Kang HE, Choi J, Yun SG, Jung SP, Bae SY, You JY, Choi YJ, Kim YH, Park KH

Purpose BRCA1 and BRCA2 are among the most important genes involved in DNA repair via homologous recombination (HR). Germline BRCA1/2 (gBRCA1/2)-related cancers have specific characteristics and treatment options but conducting gBRCA1/2...
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Spinal Metastases and the Evolving Role of Molecular Targeted Therapy, Chemotherapy, and Immunotherapy

Fomchenko EI, Bayley JC, Alvarez-Breckenridge C, Rhines LD, Tatsui CE

Metastatic involvement of the spine is a common complication of systemic cancer progression. Surgery and external beam radiotherapy are palliative treatment modalities aiming to preserve neurological function, control pain and...
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Management of propofol-related infusion syndrome and discussion of POLG mitochondrial mutation: a case report

Nguyen B, Figueroa S

Background: Propofol-related infusion syndrome (PRIS) is a known complication of long-term propofol infusion. Providers should be aware of PRIS risk, as early recognition is key to avoiding mortality, which can...
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SCN5A p.P1725L variant that showed ventricular fibrillation and recurrent pericarditis, and a family member with sick sinus syndrome

Yamamoto H, Itamoto C, Hayashi M, Kohno T, Yagihara N

Background: In Brugada syndrome (BrS), the arrhythmogenic substrate is suggested to be located in the epicardial surface of the right ventricle outflow tract. Postmortem examinations of BrS described epicardial and...
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A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn

Hong G, Choi M

Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and...
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Cerebral Venous Sinus Thrombosis with MTHFR C677T Heterozygous Mutation

Chae S, Yun DM, Lim SM, Jang SH

Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases the level of homocysteine. MTHFR C677T gene polymorphism has been reported as a well-known cause of elevated homocysteine level associated with...
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Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis

Alam MM, Alathaibi A, Attar RA, Kashif M, Al-Ghamdi HS, Alharthi SA, Bokhary A, Althomali M

We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia,...
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Somatic Mutations of TP53 Identified by Targeted Next-Generation Sequencing Are Poor Prognostic Factors for Primary Operable Breast Cancer: A Single-Center Study

Park JH, Kwon MJ, Seo J, Kim HY, Min SK, Kim LS

Few studies have reported on the clinical utility of targeted next-generation sequencing (NGS) for breast cancer in Korea. We retrospectively reviewed the targeted NGS data of 219 patients with breast...
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A Novel Missense PRKAR1A Variant Causes Carney Complex

Kim B, Jang HN, Chae KS, Shin HS, Kim YH, Kim SJ, Seong MW, Kim JH

The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of...
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Diagnostic Approach for Acute Myeloid Leukemia Based on the World Health Organization Classification of Hematologic Neoplasms

Cho YU

Acute myeloid leukemias (AMLs) are heterogeneous hematologic neoplasms characterized by myeloblast or promyelocyte proliferation without normal differentiation. The World Health Organization (WHO) classifies AMLs on the basis of chromosomal and...
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Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran

Komachali SR, Siahpoosh Z, Salehi M

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by...
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Elderly CADASIL patients with intact neurological status

Zhang R, Ouin E, Grosset L, Ighilkrim K, Lebenberg J, Guey S, François V, Tournier-Lasserve E, Jouvent E, Chabriat H

Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most devastating cerebral small vessel diseases. However, despite its progression with aging, some...
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Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation

Kim EY, Kim SY, Seo Y, Shin C

Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 mutation with a unique...
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Bismuth-Based Quadruple Therapy versus MetronidazoleIntensified Triple Therapy as a First-Line Treatment for Clarithromycin-Resistant Helicobacter pylori Infection: A Multicenter Randomized Controlled Trial

Seo SI, Lim H, Bang CS, Yang YJ, Baik GH, Lee SP, Jang HJ, Kae SH, Kim J, Kim HY, Shin WG

Background/Aims: Clarithromycin resistance is a main factor for treatment failure in the context of Helicobacter pylori infection. However, the treatment regimen for clarithromycin-resistant H. pylori infection has not yet been determined....
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Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients

Yang H, Park H, Ryu HJ, Heo J, Kim JS, Oh YL, Choe JH, Kim JH, Kim JS, Jang HW, Kim TH, Kim SW, Chung JH

Background: Telomerase reverse transcriptase (TERT) promoter mutations are associated with increased recurrence and mortality in patients with thyroid carcinoma. Previous studies on TERT promoter mutations were retrospectively conducted on a...
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Asymmetric Contribution of Blastomere Lineages of First Division of the Zygote to Entire Human Body Using Post-Zygotic Variants

Kwon SG, Bae GH, Choi JH, Mali NM, Jun MS, Kim DS, Han MH, Park S, Ju YS, Choi SH, Oh JW

BACKGROUND: In humans, after fertilization, the zygote divides into two 2n diploid daughter blastomeres. During this division, DNA is replicated, and the remaining mutually exclusive genetic mutations in the genome...
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Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss

Umugire A, Lee S, Lee CJ, Choi Y, Kim T, Cho HH

Objectives. Hyaluronan synthase 1 (HAS1) is a membrane-bound protein that is abundant in the epidermis and dermis, and it is important for skin function. However, its association with hearing loss...
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